Living with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
An extremely rare condition with eye muscle weakness, muscle problems, and other nervous system signs in adults.
Understanding Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
It involves several deletions in mitochondrial DNA (the DNA in the cell's energy-making parts) and low activity of an enzyme called DGUOK in muscle. Symptoms vary a lot between people and usually begin in adulthood. They can include eye muscle weakness, muscle disease, nerve damage, and other problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping of both upper eyelids (ptosis)
- Weak eye muscles (external ophthalmoplegia)
- Weakness in the hip, shoulder, and leg muscles
- Trouble swallowing (dysphagia)
- Nerve damage that affects sensation (sensory axonal neuropathy)
- Hearing loss that starts in adulthood
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DGUOK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the DGUOK gene. GARD lists both autosomal recessive and mitochondrial inheritance.
Also known as: adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency; adult-onset multiple mtdna deletion syndrome due to dguok deficiency; peob4; progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive type 4; progressive external ophthalmoplegia, autosomal recessive 4
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.
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